Journal
CURRENT PROTEIN & PEPTIDE SCIENCE
Volume 18, Issue 7, Pages 702-714Publisher
BENTHAM SCIENCE PUBL LTD
DOI: 10.2174/1389203717666160311121954
Keywords
Variants; parkin; PINK1; DJ-1; pathogenicity; phenotype
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Funding
- Intramural Research Program of the NIH, National Institute on Aging
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Early onset Parkinson's disease can be caused by variants in the PINK1, Parkin, and DJ-1 genes. Since their initial discoveries, hundreds of variants have been found in these genes that are associated with a Parkinsonian phenotype. This review will briefly discuss the functions of the protein products of the three genes, then focus on the effects that disease associated variants have on these functions. We will also discuss how experimental findings can help decide whether individual variants are pathogenic or not.
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